Submissions for variant NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)

gnomAD frequency: 0.00187  dbSNP: rs11570052

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172560	SCV000054776	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035648	SCV000059299	likely benign	not specified	2015-05-07	criteria provided, single submitter	clinical testing	p.Val189Ile in exon 5 of MYBPC3: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (204/60142) of European chrom osomes, including 2 homozygotes, by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org; dbSNP rs11570052).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080991	SCV000253166	benign	Hypertrophic cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000247261	SCV000318555	likely benign	Cardiovascular phenotype	2019-03-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000610786	SCV000744872	benign	Hypertrophic cardiomyopathy 4	2015-09-21	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000035648	SCV000747988	likely benign	not specified	2016-07-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776040	SCV000910643	likely benign	Cardiomyopathy	2018-03-07	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852655	SCV000995361	likely benign	Long QT syndrome	2018-11-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000172560	SCV001148283	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	MYBPC3: BS2
Illumina Laboratory Services, Illumina	RCV000610786	SCV001263423	likely benign	Hypertrophic cardiomyopathy 4	2018-02-16	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001106363	SCV001263424	benign	Left ventricular noncompaction 10	2018-02-16	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000776040	SCV001332766	benign	Cardiomyopathy	2018-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000172560	SCV001837454	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22429680, 23861362, 24503780, 24721642, 25342278, 27483260, 21310275)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000172560	SCV002049392	benign	not provided	2023-10-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000172560	SCV005224339	likely benign	not provided		criteria provided, single submitter	not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030292	SCV000052959	benign	Primary familial hypertrophic cardiomyopathy	2015-05-26	no assertion criteria provided	clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University	RCV000172560	SCV000280274	likely benign	not provided	2016-06-20	no assertion criteria provided	provider interpretation	reclassified based on 2015 re-review. Data from that re-review is summarized in DOI: 10.1161/CIRCGENETICS.116.001700.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610786	SCV000733067	benign	Hypertrophic cardiomyopathy 4		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035648	SCV001923565	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035648	SCV001959485	benign	not specified		no assertion criteria provided	clinical testing
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics	RCV001080991	SCV005373741	benign	Hypertrophic cardiomyopathy		no assertion criteria provided	research